Varaico: Literature-Extracted Genetic Variants

COL12A1

321 papers

RefSeq Summary

This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in ...

Pfam Domains

fn3aa 26–109UCSCFibronectin type III domain

VWAaa 140–311UCSCvon Willebrand factor type A domain

fn3aa 335–419UCSCFibronectin type III domain

VWAaa 440–611UCSCvon Willebrand factor type A domain

fn3aa 633–719UCSCFibronectin type III domain

fn3aa 724–806UCSCFibronectin type III domain

Gene Aliases

HGNC Name

collagen type XII alpha 1 chain

HGNC Previous Symbol

COL12A1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_004370.6

p.I2334T

c.7001T>C

Surrounding Variants

1 paper

NM_004370.6

p.W2332*

c.6995G>A

1 paper

NM_004370.6

p.D2336D

c.7008C>T

1 paper

NM_004370.6

p.D2337N

c.7009G>A

1 paper

NM_004370.6

p.F2326L

c.6978C>G

1 paper

NM_004370.6

p.F2326L

c.6978C>A

1 paper

NM_004370.6

p.F2326L

c.6976T>C

1 paper

NM_004370.6

p.D2370N

c.7108G>A

1 paper

NM_004370.6

p.R2314P

c.6941G>C

1 paper

NM_004370.6

p.S2374C

c.7121C>G

1 paper

NM_004370.6

p.R2314W

c.6940C>T

1 paper

NM_004370.6

p.F2376L

c.7126T>C

1 paper

NM_004370.6

p.F2376L

c.7128C>G